Canonical Allele Identifier: CA500454033

Gene: PNPO

Linked Data

• dbSNP Id: rs1430308174
• gnomAD v2: 17-46024067-C-A
• gnomAD v4: 17-47946701-C-A
• MyVariant Identifiers: chr17:g.46024067C>A (hg19) ; chr17:g.47946701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946701C>A , CM000679.2:g.47946701C>A	GRCh38
NC_000017.10:g.46024067C>A , CM000679.1:g.46024067C>A	GRCh37
NC_000017.9:g.43379066C>A	NCBI36
NG_008744.1:g.10179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.576C>A	ENSP00000225573.5:p.Gly192=
ENST00000434554.7:c.651C>A	ENSP00000399960.3:p.Gly217=
ENST00000582171.6:c.*370C>A	ENSP00000463994.1:n.*370C>A
ENST00000583599.6:c.465C>A	ENSP00000463919.2:p.Gly155=
ENST00000584061.6:c.636C>A	ENSP00000463972.2:p.Gly212=
ENST00000584806.2:n.374C>A
ENST00000641285.1:n.485C>A
ENST00000641305.1:n.2204C>A
ENST00000641323.1:c.*724C>A	ENSP00000492965.1:n.*724C>A
ENST00000641427.1:n.705C>A
ENST00000641511.1:c.437C>A
ENST00000641703.1:c.421C>A	ENSP00000493219.1:n.421C>A
ENST00000641709.1:c.*527C>A	ENSP00000493349.1:n.*527C>A
ENST00000641856.1:c.*1213C>A	ENSP00000493224.1:n.*1213C>A
ENST00000642017.2:c.705C>A MANE Select	ENSP00000493302.2:p.Gly235=
ENST00000225573.4:c.705C>A	ENSP00000225573.4:p.Gly235=
ENST00000434554.6:c.576C>A	ENSP00000399960.2:p.Gly192=
ENST00000582171.5:c.*370C>A	ENSP00000463994.1:n.*370C>A
ENST00000584806.1:n.374C>A
ENST00000585320.5:c.*187C>A	ENSP00000462345.1:n.*187C>A
NM_018129.3:c.705C>A	NP_060599.1:p.Gly235=
XM_005257500.2:c.465C>A	XP_005257557.1:p.Gly155=
XM_011524968.1:c.420C>A	XP_011523270.1:p.Gly140=
XM_005257500.3:c.465C>A	XP_005257557.1:p.Gly155=
XM_011524968.2:c.420C>A	XP_011523270.1:p.Gly140=
XM_017024813.1:c.465C>A	XP_016880302.1:p.Gly155=
NM_018129.4:c.705C>A MANE Select	NP_060599.1:p.Gly235=